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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 2

Zeitschriftenartikel

Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad (2020): De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660

Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa (2020): Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. In: Brain, Bd. 143: S. 2929-2944

Diese Liste wurde am Sat Mar 23 20:36:03 2024 CET erstellt.